Variant report

Variant	rs74024170
Chromosome Location	chr15:78424545-78424546
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:78423672-78424626	HepG2	liver:	n/a	n/a
2	MAX	chr15:78423147-78424605	A549	lung:	n/a	chr15:78423785-78423795
3	CTCF	chr15:78424460-78424610	GM12871	blood:	n/a	n/a
4	TCF12	chr15:78423588-78424643	A549	lung:	n/a	n/a
5	MTA3	chr15:78423697-78424561	GM12878	blood:	n/a	n/a
6	MAZ	chr15:78423359-78424576	IMR90	lung:	n/a	chr15:78423785-78423795
7	REST	chr15:78423413-78424667	H1-neurons	neurons:	n/a	chr15:78423794-78423807 chr15:78424021-78424034 chr15:78423812-78423825
8	BCL3	chr15:78423783-78424545	A549	lung:	n/a	chr15:78423888-78423897 chr15:78424085-78424094 chr15:78423805-78423818
9	MXI1	chr15:78422758-78424690	SK-N-SH	brain:	n/a	n/a
10	CTCF	chr15:78423423-78424553	SK-N-SH	brain:	n/a	chr15:78423709-78423722
11	CTCF	chr15:78423570-78424641	A549	lung:	n/a	chr15:78423709-78423722

No.	Distal block	Cell Line	Cell type
1	chr15:78424185..78426461-chr15:78430186..78431822,2	K562	blood:
2	chr15:78423938..78425787-chr15:78425913..78427617,2	K562	blood:
3	chr15:78423050..78427605-chr15:78432495..78437286,5	K562	blood:
4	chr15:78422180..78427678-chr15:78438636..78444300,13	MCF-7	breast:
5	chr15:78421103..78425437-chr15:78438436..78443517,9	MCF-7	breast:
6	chr15:78424205..78426450-chr15:78728498..78730195,2	K562	blood:
7	chr15:78422233..78425731-chr15:78438987..78443227,7	K562	blood:
8	chr15:78423820..78425369-chr15:78574288..78576188,2	K562	blood:
9	chr15:78422464..78425441-chr3:23985742..23987944,2	MCF-7	breast:
10	chr15:78422015..78425228-chr15:78439030..78443289,7	K562	blood:

Variant related genes	Relation type
CIB2	TF binding region
ENSG00000260988	Chromatin interaction
ENSG00000136381	Chromatin interaction
ENSG00000174738	Chromatin interaction
ENSG00000166411	Chromatin interaction
ENSG00000272418	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11630013	1.00[ASN][1000 genomes]
rs11635115	1.00[ASN][1000 genomes]
rs11635268	1.00[ASN][1000 genomes]
rs16969502	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17398057	1.00[ASN][1000 genomes]
rs17399424	1.00[ASN][1000 genomes]
rs34057735	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4438275	1.00[ASN][1000 genomes]
rs4887008	1.00[ASN][1000 genomes]
rs55829894	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55914317	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57778149	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59075488	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60790001	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61347580	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62008166	1.00[ASN][1000 genomes]
rs62008596	1.00[ASN][1000 genomes]
rs62011475	1.00[ASN][1000 genomes]
rs62011476	1.00[ASN][1000 genomes]
rs62011479	1.00[ASN][1000 genomes]
rs62011482	1.00[ASN][1000 genomes]
rs62011483	1.00[ASN][1000 genomes]
rs62011509	1.00[ASN][1000 genomes]
rs62011510	1.00[ASN][1000 genomes]
rs62011512	1.00[ASN][1000 genomes]
rs62011516	1.00[ASN][1000 genomes]
rs62011518	1.00[ASN][1000 genomes]
rs62011519	1.00[ASN][1000 genomes]
rs62011521	1.00[ASN][1000 genomes]
rs7163268	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7163579	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7165474	1.00[ASN][1000 genomes]
rs7182599	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7183671	1.00[ASN][1000 genomes]
rs74024166	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8028842	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs894298	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	esv3352352	chr15:78422697-78424795	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78422200-78424800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:78422800-78424800	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr15:78423000-78424600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:78423000-78424800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr15:78423000-78424800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:78423000-78425000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr15:78423200-78424600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr15:78423200-78424600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:78423200-78424600	Active TSS	Right Ventricle	heart
10	chr15:78423200-78424800	Active TSS	Thymus	Thymus
11	chr15:78423400-78424600	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr15:78423400-78424600	Active TSS	Fetal Intestine Small	intestine
13	chr15:78423400-78424600	Active TSS	Left Ventricle	heart
14	chr15:78423400-78424600	Active TSS	Psoas Muscle	Psoas
15	chr15:78423400-78424600	Active TSS	Right Atrium	heart
16	chr15:78423600-78424600	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr15:78423600-78424600	Active TSS	NHLF	lung
18	chr15:78423800-78424600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr15:78423800-78424600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr15:78423800-78424600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr15:78423800-78424600	Flanking Active TSS	HMEC	breast
22	chr15:78424000-78424600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr15:78424000-78424600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr15:78424000-78424600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr15:78424000-78424600	Flanking Active TSS	Primary B cells from peripheral blood	blood
26	chr15:78424000-78424600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr15:78424000-78424600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr15:78424000-78424600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr15:78424000-78424600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr15:78424000-78424600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr15:78424000-78424600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr15:78424000-78424600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:78424000-78424600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr15:78424000-78424600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr15:78424000-78424600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr15:78424000-78424600	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr15:78424000-78424600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr15:78424000-78424600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr15:78424000-78424600	Flanking Active TSS	Fetal Muscle Trunk	muscle
40	chr15:78424000-78424600	Flanking Active TSS	Placenta	Placenta
41	chr15:78424000-78424600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr15:78424000-78424600	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr15:78424000-78424600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr15:78424000-78424600	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr15:78424000-78424600	Flanking Active TSS	GM12878-XiMat	blood
46	chr15:78424000-78424600	Flanking Active TSS	HSMMtube	muscle
47	chr15:78424000-78424600	Flanking Active TSS	HUVEC	blood vessel
48	chr15:78424000-78424600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr15:78424000-78424600	Flanking Active TSS	NH-A	brain
50	chr15:78424000-78424600	Flanking Active TSS	NHEK	skin

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